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Review
. 2026 Jan 12;49(1):78-83.
doi: 10.3760/cma.j.cn112147-20250728-00445.

[Application and research progress of artificial intelligence in the diagnosis and treatment of rare lung diseases]

[Article in Chinese]
Affiliations
Review

[Application and research progress of artificial intelligence in the diagnosis and treatment of rare lung diseases]

[Article in Chinese]
B Y Liu et al. Zhonghua Jie He He Hu Xi Za Zhi. .

Abstract

Rare lung diseases are a group of diseases characterized by significant clinical heterogeneity, challenging diagnosis and treatment processes, and diverse underlying causes. Due to their uncommon symptoms and limited awareness among healthcare providers, these diseases are frequently misdiagnosed or diagnosed too late, resulting in poor patient outcomes and placing a significant healthcare burden on the healthcare system. However, in recent years, the rapid advancements in artificial intelligence (AI) technology within the medical field have created new opportunities for early identification, accurate diagnosis, and personalized management of these diseases. A variety of AI techniques, ranging from traditional machine learning to more recent methods such as deep learning, reinforcement learning, and transfer learning, have been employed in areas such as clinical decision support, radiomics, omics data analysis, and the prediction of treatment responses for rare lung diseases. This article systematically reviews the latest research progress of AI applications in idiopathic pulmonary fibrosis, cystic fibrosis, idiopathic pulmonary arterial hypertension, and other rare lung diseases. It also emphasizes AI's potential benefits in disease classification, treatment evaluation, and prognosis prediction through illustrative research examples.

呼吸罕见病是一类临床表现异质性强、诊疗复杂、病因多样的疾病,常因症状不典型与医生认知有限而被误诊或延误诊治,受此影响,患者预后常常不佳,医疗负担较为沉重。近年来,人工智能技术在医学领域的迅速发展为此类疾病的早期识别、精准诊断及个体化管理提供了新思路。从传统的机器学习到深度学习、强化学习、迁移学习等新兴方法,人工智能已在呼吸罕见病的临床辅助决策、影像组学分析、组学数据挖掘以及治疗反应预测等方面进行了尝试。本文系统梳理了人工智能在特发性肺纤维化、囊性纤维化、特发性肺动脉高压及其他罕见呼吸病种中的最新研究进展,结合代表性研究案例,阐释了人工智能在呼吸罕见病分型诊断、治疗评估与预后预测中的潜力与优势。.

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